Incidental Mutation 'R1168:Adgrb3'
ID 101230
Institutional Source Beutler Lab
Gene Symbol Adgrb3
Ensembl Gene ENSMUSG00000033569
Gene Name adhesion G protein-coupled receptor B3
Synonyms Bai3, A830096D10Rik
MMRRC Submission 039241-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.468) question?
Stock # R1168 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 25067476-25829707 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 25826199 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 188 (S188T)
Ref Sequence ENSEMBL: ENSMUSP00000116231 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041838] [ENSMUST00000135518] [ENSMUST00000146592] [ENSMUST00000151309]
AlphaFold Q80ZF8
Predicted Effect probably benign
Transcript: ENSMUST00000041838
AA Change: S188T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000035612
Gene: ENSMUSG00000033569
AA Change: S188T

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
low complexity region 212 223 N/A INTRINSIC
TSP1 294 343 2.1e-12 SMART
TSP1 348 398 7.97e-13 SMART
TSP1 403 453 6.28e-11 SMART
TSP1 458 508 1.48e-7 SMART
HormR 510 576 4.15e-20 SMART
Pfam:DUF3497 586 810 1.7e-52 PFAM
GPS 815 868 1.24e-21 SMART
Pfam:7tm_2 874 1143 2.1e-64 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000135518
AA Change: S188T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000119804
Gene: ENSMUSG00000033569
AA Change: S188T

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
low complexity region 212 223 N/A INTRINSIC
TSP1 294 343 2.1e-12 SMART
TSP1 348 398 7.97e-13 SMART
TSP1 403 453 6.28e-11 SMART
TSP1 458 508 1.48e-7 SMART
HormR 510 576 4.15e-20 SMART
Pfam:DUF3497 586 810 1.7e-52 PFAM
GPS 815 868 1.24e-21 SMART
Pfam:7tm_2 874 1143 2.1e-64 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000146592
SMART Domains Protein: ENSMUSP00000116759
Gene: ENSMUSG00000033569

DomainStartEndE-ValueType
low complexity region 5 16 N/A INTRINSIC
TSP1 87 136 2.1e-12 SMART
TSP1 141 191 7.97e-13 SMART
TSP1 196 246 6.28e-11 SMART
TSP1 251 301 1.48e-7 SMART
HormR 303 369 4.15e-20 SMART
Pfam:DUF3497 379 603 2.5e-52 PFAM
GPS 608 661 1.24e-21 SMART
Pfam:7tm_2 667 903 5.4e-66 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000151309
AA Change: S188T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000116231
Gene: ENSMUSG00000033569
AA Change: S188T

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
low complexity region 212 223 N/A INTRINSIC
TSP1 294 343 2.1e-12 SMART
TSP1 348 398 7.97e-13 SMART
TSP1 403 453 6.28e-11 SMART
TSP1 458 508 1.48e-7 SMART
HormR 510 576 4.15e-20 SMART
Pfam:GAIN 589 794 1.1e-44 PFAM
GPS 815 868 1.24e-21 SMART
Pfam:7tm_2 875 1143 2.7e-63 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189254
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194343
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195754
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.1%
  • 10x: 95.2%
  • 20x: 88.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This p53-target gene encodes a brain-specific angiogenesis inhibitor, a seven-span transmembrane protein, and is thought to be a member of the secretin receptor family. Brain-specific angiogenesis proteins BAI2 and BAI3 are similar to BAI1 in structure, have similar tissue specificities, and may also play a role in angiogenesis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a conditional allele activated in Purkinje cells exhibit impaired motor learning with alterned climbing fiber electrophysiology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T C 3: 138,067,900 (GRCm38) V950A probably benign Het
Ahr A T 12: 35,504,532 (GRCm38) N529K possibly damaging Het
Akr1c21 A G 13: 4,583,837 (GRCm38) N302D probably benign Het
Aldh8a1 T A 10: 21,384,631 (GRCm38) probably null Het
Alpk3 A T 7: 81,103,357 (GRCm38) K1554M probably damaging Het
Arhgef5 T A 6: 43,273,396 (GRCm38) H360Q probably benign Het
Cacna1a A G 8: 84,579,501 (GRCm38) I1293V probably damaging Het
Cacna2d4 C T 6: 119,307,286 (GRCm38) R745W probably damaging Het
Cd200r4 T A 16: 44,832,944 (GRCm38) W72R probably damaging Het
Ces2e A T 8: 104,927,014 (GRCm38) D28V possibly damaging Het
Cfap20dc T C 14: 8,442,939 (GRCm38) N610S probably benign Het
Cfap45 T C 1: 172,545,697 (GRCm38) Y534H probably damaging Het
Cfap54 A T 10: 92,937,920 (GRCm38) C87S probably damaging Het
Chmp7 C T 14: 69,719,450 (GRCm38) M336I probably benign Het
Chrna4 T A 2: 181,034,138 (GRCm38) M67L possibly damaging Het
Cts7 T A 13: 61,353,817 (GRCm38) N290Y probably damaging Het
Enpp6 A T 8: 47,030,454 (GRCm38) M94L probably damaging Het
Fam83d C T 2: 158,768,523 (GRCm38) A137V probably benign Het
Foxd2 C T 4: 114,907,678 (GRCm38) A382T possibly damaging Het
Galnt11 T G 5: 25,250,246 (GRCm38) S193R probably damaging Het
Gapvd1 A T 2: 34,704,469 (GRCm38) D856E probably damaging Het
Gclm T A 3: 122,262,688 (GRCm38) H86Q possibly damaging Het
Gipc2 T C 3: 152,107,997 (GRCm38) T220A probably benign Het
Gm12185 G T 11: 48,915,355 (GRCm38) N336K possibly damaging Het
Gm5431 A T 11: 48,895,364 (GRCm38) S61R probably benign Het
Gorasp2 C T 2: 70,688,400 (GRCm38) P260S probably damaging Het
H2-M10.6 A G 17: 36,813,160 (GRCm38) Q172R probably benign Het
Ibsp A G 5: 104,302,152 (GRCm38) I6V probably damaging Het
Iqsec1 T C 6: 90,689,676 (GRCm38) Y593C probably damaging Het
Irag1 T C 7: 110,895,931 (GRCm38) K429R probably damaging Het
Itln1 G T 1: 171,531,551 (GRCm38) Y61* probably null Het
Kif21a G A 15: 90,993,753 (GRCm38) T284I probably damaging Het
Kif3a G A 11: 53,598,312 (GRCm38) G621R probably damaging Het
Klb A G 5: 65,378,974 (GRCm38) Y549C probably damaging Het
Lman1l G A 9: 57,608,312 (GRCm38) R427C probably benign Het
Lrrc37 T C 11: 103,618,950 (GRCm38) probably benign Het
Map4 T C 9: 110,034,964 (GRCm38) V419A probably benign Het
Mastl A T 2: 23,133,132 (GRCm38) D526E probably benign Het
Mtif2 A G 11: 29,536,914 (GRCm38) D308G probably benign Het
Ncald A G 15: 37,397,334 (GRCm38) F34S probably damaging Het
Ndc1 A G 4: 107,395,812 (GRCm38) T593A probably benign Het
Ndst3 C T 3: 123,606,968 (GRCm38) V15I probably benign Het
Nup214 A G 2: 32,025,301 (GRCm38) N1166D probably benign Het
Or1a1 A G 11: 74,196,421 (GRCm38) H306R probably benign Het
Or2ad1 A G 13: 21,142,617 (GRCm38) S147P probably benign Het
Or4a68 G A 2: 89,439,869 (GRCm38) Q137* probably null Het
Or5m8 A T 2: 85,992,684 (GRCm38) Y289F probably damaging Het
Pcdhb8 T C 18: 37,356,727 (GRCm38) I486T probably benign Het
Pdzrn4 A T 15: 92,770,271 (GRCm38) Y768F probably benign Het
Pgf A G 12: 85,171,767 (GRCm38) S70P probably benign Het
Plcl2 G A 17: 50,607,072 (GRCm38) A370T possibly damaging Het
Pnkp T A 7: 44,862,537 (GRCm38) W115R probably benign Het
Ppp1r16a C T 15: 76,693,669 (GRCm38) Q328* probably null Het
Prag1 A G 8: 36,146,645 (GRCm38) E1117G probably damaging Het
Prr12 T A 7: 45,029,047 (GRCm38) Q1919L unknown Het
Ret G T 6: 118,173,558 (GRCm38) H666N possibly damaging Het
Rfwd3 C T 8: 111,288,242 (GRCm38) R326Q probably damaging Het
Robo2 C T 16: 73,948,296 (GRCm38) G864S probably damaging Het
Rpa2 T G 4: 132,771,860 (GRCm38) I80S probably damaging Het
Ryk A T 9: 102,898,475 (GRCm38) D428V probably damaging Het
Slc29a1 A T 17: 45,590,278 (GRCm38) N30K probably damaging Het
Stbd1 A G 5: 92,604,936 (GRCm38) N95S probably benign Het
Tbc1d22a A G 15: 86,292,134 (GRCm38) E212G probably benign Het
Tex14 A G 11: 87,536,742 (GRCm38) T7A probably benign Het
Tmc8 T C 11: 117,792,563 (GRCm38) V648A possibly damaging Het
Tmem132b G T 5: 125,787,019 (GRCm38) V730F probably damaging Het
Tmub2 G A 11: 102,287,370 (GRCm38) G33D possibly damaging Het
Trak1 G A 9: 121,440,679 (GRCm38) D124N probably damaging Het
Ttc28 A T 5: 111,231,111 (GRCm38) Y1154F probably damaging Het
Ttn T C 2: 76,909,369 (GRCm38) T3609A probably benign Het
Tulp2 A G 7: 45,517,842 (GRCm38) T99A probably benign Het
Ugt2a2 A T 5: 87,465,568 (GRCm38) probably null Het
Ush2a G A 1: 188,678,411 (GRCm38) V2419I probably benign Het
Vill C A 9: 119,070,321 (GRCm38) P343Q probably damaging Het
Vmn2r66 T A 7: 85,006,854 (GRCm38) H318L possibly damaging Het
Wdr3 A C 3: 100,142,219 (GRCm38) N800K probably benign Het
Wdr93 A G 7: 79,749,174 (GRCm38) K19E probably damaging Het
Wrn A G 8: 33,316,408 (GRCm38) S333P probably damaging Het
Zfp418 T C 7: 7,182,501 (GRCm38) S488P possibly damaging Het
Zfp804a A G 2: 82,256,697 (GRCm38) E290G probably benign Het
Other mutations in Adgrb3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00164:Adgrb3 APN 1 25,228,500 (GRCm38) missense probably benign 0.09
IGL00507:Adgrb3 APN 1 25,074,715 (GRCm38) missense possibly damaging 0.93
IGL00828:Adgrb3 APN 1 25,488,119 (GRCm38) missense possibly damaging 0.73
IGL01285:Adgrb3 APN 1 25,093,787 (GRCm38) missense probably benign 0.32
IGL01309:Adgrb3 APN 1 25,112,271 (GRCm38) missense possibly damaging 0.69
IGL01540:Adgrb3 APN 1 25,112,171 (GRCm38) splice site probably null
IGL01608:Adgrb3 APN 1 25,553,774 (GRCm38) missense probably damaging 1.00
IGL01638:Adgrb3 APN 1 25,559,751 (GRCm38) splice site probably benign
IGL01657:Adgrb3 APN 1 25,826,493 (GRCm38) missense probably benign 0.03
IGL01666:Adgrb3 APN 1 25,460,751 (GRCm38) missense probably damaging 0.96
IGL01712:Adgrb3 APN 1 25,826,279 (GRCm38) missense probably benign
IGL01767:Adgrb3 APN 1 25,559,814 (GRCm38) missense probably benign 0.00
IGL01987:Adgrb3 APN 1 25,101,431 (GRCm38) critical splice donor site probably null
IGL02201:Adgrb3 APN 1 25,420,550 (GRCm38) splice site probably benign
IGL02584:Adgrb3 APN 1 25,504,984 (GRCm38) missense probably damaging 0.98
IGL02685:Adgrb3 APN 1 25,084,242 (GRCm38) critical splice donor site probably null
IGL02886:Adgrb3 APN 1 25,504,910 (GRCm38) splice site probably null
IGL02929:Adgrb3 APN 1 25,553,824 (GRCm38) missense probably benign 0.00
IGL03153:Adgrb3 APN 1 25,531,897 (GRCm38) nonsense probably null
IGL03165:Adgrb3 APN 1 25,094,394 (GRCm38) missense probably benign 0.05
IGL03227:Adgrb3 APN 1 25,547,475 (GRCm38) missense probably damaging 1.00
IGL03392:Adgrb3 APN 1 25,504,448 (GRCm38) missense probably damaging 0.99
schwach UTSW 1 25,111,691 (GRCm38) critical splice donor site probably null
R0007:Adgrb3 UTSW 1 25,111,691 (GRCm38) critical splice donor site probably null
R0048:Adgrb3 UTSW 1 25,101,482 (GRCm38) missense probably benign 0.02
R0048:Adgrb3 UTSW 1 25,101,482 (GRCm38) missense probably benign 0.02
R0322:Adgrb3 UTSW 1 25,221,748 (GRCm38) splice site probably benign
R0442:Adgrb3 UTSW 1 25,396,470 (GRCm38) missense probably damaging 0.96
R0563:Adgrb3 UTSW 1 25,547,554 (GRCm38) missense probably damaging 0.99
R1252:Adgrb3 UTSW 1 25,128,828 (GRCm38) missense probably damaging 1.00
R1264:Adgrb3 UTSW 1 25,559,850 (GRCm38) missense probably damaging 0.97
R1543:Adgrb3 UTSW 1 25,488,088 (GRCm38) missense probably benign 0.01
R1577:Adgrb3 UTSW 1 25,094,183 (GRCm38) missense possibly damaging 0.51
R1581:Adgrb3 UTSW 1 25,094,072 (GRCm38) missense possibly damaging 0.94
R1583:Adgrb3 UTSW 1 25,226,831 (GRCm38) splice site probably null
R1653:Adgrb3 UTSW 1 25,101,503 (GRCm38) missense probably benign 0.09
R1725:Adgrb3 UTSW 1 25,826,300 (GRCm38) missense probably damaging 1.00
R1792:Adgrb3 UTSW 1 25,228,471 (GRCm38) missense probably damaging 1.00
R1827:Adgrb3 UTSW 1 25,532,577 (GRCm38) missense probably damaging 0.99
R1838:Adgrb3 UTSW 1 25,084,270 (GRCm38) missense probably damaging 1.00
R1869:Adgrb3 UTSW 1 25,826,438 (GRCm38) missense possibly damaging 0.83
R1971:Adgrb3 UTSW 1 25,547,444 (GRCm38) missense probably benign 0.02
R2005:Adgrb3 UTSW 1 25,111,718 (GRCm38) missense probably benign 0.25
R2134:Adgrb3 UTSW 1 25,093,957 (GRCm38) missense probably damaging 0.99
R2142:Adgrb3 UTSW 1 25,068,209 (GRCm38) missense probably damaging 1.00
R2268:Adgrb3 UTSW 1 25,111,817 (GRCm38) missense possibly damaging 0.79
R3740:Adgrb3 UTSW 1 25,826,454 (GRCm38) missense probably benign 0.00
R3877:Adgrb3 UTSW 1 25,111,825 (GRCm38) missense probably damaging 1.00
R4120:Adgrb3 UTSW 1 25,094,307 (GRCm38) nonsense probably null
R4344:Adgrb3 UTSW 1 25,826,748 (GRCm38) missense possibly damaging 0.61
R4363:Adgrb3 UTSW 1 25,112,222 (GRCm38) missense probably damaging 1.00
R4438:Adgrb3 UTSW 1 25,831,027 (GRCm38) unclassified probably benign
R4465:Adgrb3 UTSW 1 25,094,366 (GRCm38) missense probably damaging 1.00
R4480:Adgrb3 UTSW 1 25,111,748 (GRCm38) missense probably damaging 1.00
R4554:Adgrb3 UTSW 1 25,084,279 (GRCm38) missense probably damaging 1.00
R4557:Adgrb3 UTSW 1 25,084,279 (GRCm38) missense probably damaging 1.00
R4622:Adgrb3 UTSW 1 25,826,488 (GRCm38) missense probably damaging 0.99
R4713:Adgrb3 UTSW 1 25,547,532 (GRCm38) missense probably damaging 1.00
R4772:Adgrb3 UTSW 1 25,531,875 (GRCm38) missense probably damaging 1.00
R4890:Adgrb3 UTSW 1 25,221,827 (GRCm38) missense probably damaging 1.00
R5045:Adgrb3 UTSW 1 25,074,779 (GRCm38) missense probably damaging 1.00
R5061:Adgrb3 UTSW 1 25,068,128 (GRCm38) utr 3 prime probably benign
R5097:Adgrb3 UTSW 1 25,826,084 (GRCm38) missense probably damaging 1.00
R5227:Adgrb3 UTSW 1 25,093,952 (GRCm38) missense possibly damaging 0.55
R5241:Adgrb3 UTSW 1 25,111,790 (GRCm38) missense possibly damaging 0.85
R5328:Adgrb3 UTSW 1 25,094,275 (GRCm38) missense possibly damaging 0.90
R5372:Adgrb3 UTSW 1 25,128,859 (GRCm38) missense probably benign 0.01
R5703:Adgrb3 UTSW 1 25,420,559 (GRCm38) missense probably damaging 1.00
R5747:Adgrb3 UTSW 1 25,826,562 (GRCm38) missense probably damaging 1.00
R5998:Adgrb3 UTSW 1 25,431,501 (GRCm38) splice site probably null
R6006:Adgrb3 UTSW 1 25,826,531 (GRCm38) missense possibly damaging 0.85
R6077:Adgrb3 UTSW 1 25,094,000 (GRCm38) nonsense probably null
R6183:Adgrb3 UTSW 1 25,094,370 (GRCm38) missense probably damaging 0.98
R6190:Adgrb3 UTSW 1 25,420,647 (GRCm38) missense probably benign 0.01
R6249:Adgrb3 UTSW 1 25,432,558 (GRCm38) missense probably damaging 1.00
R6310:Adgrb3 UTSW 1 25,111,718 (GRCm38) missense probably benign 0.13
R6450:Adgrb3 UTSW 1 25,420,602 (GRCm38) missense probably benign
R6678:Adgrb3 UTSW 1 25,460,810 (GRCm38) missense possibly damaging 0.84
R6679:Adgrb3 UTSW 1 25,131,296 (GRCm38) missense probably benign 0.01
R6685:Adgrb3 UTSW 1 25,111,736 (GRCm38) nonsense probably null
R6730:Adgrb3 UTSW 1 25,094,294 (GRCm38) missense probably damaging 1.00
R6805:Adgrb3 UTSW 1 25,826,172 (GRCm38) missense possibly damaging 0.83
R6847:Adgrb3 UTSW 1 25,093,922 (GRCm38) missense probably benign 0.03
R6929:Adgrb3 UTSW 1 25,111,771 (GRCm38) nonsense probably null
R6953:Adgrb3 UTSW 1 25,826,511 (GRCm38) missense probably damaging 1.00
R7062:Adgrb3 UTSW 1 25,826,085 (GRCm38) missense possibly damaging 0.90
R7244:Adgrb3 UTSW 1 25,131,269 (GRCm38) missense probably damaging 1.00
R7292:Adgrb3 UTSW 1 25,531,876 (GRCm38) missense probably damaging 1.00
R7325:Adgrb3 UTSW 1 25,532,630 (GRCm38) missense probably benign 0.01
R7378:Adgrb3 UTSW 1 25,531,919 (GRCm38) nonsense probably null
R7489:Adgrb3 UTSW 1 25,547,505 (GRCm38) missense probably damaging 1.00
R7615:Adgrb3 UTSW 1 25,098,897 (GRCm38) missense probably damaging 1.00
R7623:Adgrb3 UTSW 1 25,547,548 (GRCm38) missense probably damaging 1.00
R7787:Adgrb3 UTSW 1 25,432,544 (GRCm38) missense probably damaging 1.00
R7837:Adgrb3 UTSW 1 25,128,834 (GRCm38) missense probably damaging 1.00
R8064:Adgrb3 UTSW 1 25,420,556 (GRCm38) critical splice donor site probably null
R8152:Adgrb3 UTSW 1 25,221,757 (GRCm38) splice site probably null
R8161:Adgrb3 UTSW 1 25,093,922 (GRCm38) missense probably benign 0.03
R8225:Adgrb3 UTSW 1 25,826,516 (GRCm38) missense probably benign 0.00
R8417:Adgrb3 UTSW 1 25,488,053 (GRCm38) missense probably benign 0.21
R8694:Adgrb3 UTSW 1 25,826,391 (GRCm38) missense probably damaging 0.98
R8742:Adgrb3 UTSW 1 25,226,754 (GRCm38) missense probably benign 0.01
R8886:Adgrb3 UTSW 1 25,111,847 (GRCm38) missense probably damaging 1.00
R8941:Adgrb3 UTSW 1 25,094,154 (GRCm38) missense probably damaging 1.00
R8958:Adgrb3 UTSW 1 25,826,109 (GRCm38) missense possibly damaging 0.68
R8979:Adgrb3 UTSW 1 25,488,034 (GRCm38) missense probably benign 0.03
R9064:Adgrb3 UTSW 1 25,531,884 (GRCm38) missense possibly damaging 0.86
R9252:Adgrb3 UTSW 1 25,826,415 (GRCm38) missense probably benign 0.03
R9401:Adgrb3 UTSW 1 25,553,702 (GRCm38) missense probably damaging 1.00
R9739:Adgrb3 UTSW 1 25,553,768 (GRCm38) missense probably damaging 1.00
Z1088:Adgrb3 UTSW 1 25,131,271 (GRCm38) missense probably damaging 1.00
Z1176:Adgrb3 UTSW 1 25,093,914 (GRCm38) missense probably benign 0.37
Predicted Primers
Posted On 2014-01-15